SUDDEN UNEXPECTED DEATH IN THE YOUNG Jon Skinner

SUDDEN UNEXPECTED DEATH IN THE YOUNG Jon Skinner, Jo Duflou & Julie Mc. Gaughran TRAGADY (Trans-Tasman Response Against Sudden Death in the Young)

BACKGROUND • 400, 000 sudden deaths per annum in USA • Several thousand young adult sudden deaths • No apparent warning signs in 50% of young SUD • Distribution of causes of SUD poorly studied • Significant number have a familial aetiology

METHODS • All autopsies performed over a 10 yr period at DOFM Glebe were reviewed • Cases of sudden, unexpected natural death between ages of 5 and 35 selected • Sudden death defined as death occurring within 24 hours of onset of symptoms • Review of “difficult” cases by cardiologist and pathologist

RESULTS ~200, 000 deaths 25, 277 investigated 3, 854 aged 5 -35 427 natural

DEMOGRAPHICS • Cardiac deaths: – – 241 cases Mean age 26. 8 ± 5. 9 yrs 78. 4% male Mean BMI: 27. 1 ± 8. 4 kg/m 2 • Non-cardiac deaths: – – 168 cases Mean age 25. 2 ± 7. 6 yrs 58. 9% male Mean BMI: 26. 5 ± 8. 4 kg/m 2 • Undetermined deaths: – 18 cases

RESULTS - CARDIAC

PRIMARY ARRHYTHMIA • 70 cases • Criteria for inclusion: – Documented terminal arrhythmia – Documented collapse with cardiac arrest – Found dead after being asymptomatic in preceding 24 hours – No or minimal structural pathology • Confirmed Long QT syndrome in 6 cases

ATHEROSCLEROSIS • 59 cases, 96. 6% male • Mean BMI 30 Plaque rupture & thrombus Acute Myocardial infarct

MYOCARDITIS HYPERTROPHIC CARDIOMYOPATHY

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA (ARVD) • Only 4 cases (1%) • Compared to 13% in Italian study • Importance of standard diagnostic criteria & appropriate tissue sampling

RESULTS – NON-CARDIAC

EPILEPSY • 40 cases • Majority classified as SUDEP: – Sudden death – Typically young adult, posttraumatic – Apparently during sleep – No evidence of status epilepticus – Often subtherapeutic levels of antiepileptics

PULMONARY THROMBO-EMBOLISM • 21 cases • Higher body weight (mean 99 kg) & BMI (mean 34. 7) than others • Infrequent history of long-distance travel

NEGATIVE AUTOPSY DEATHS • 18 cases • Criteria for inclusion: – Unknown antemortem circumstances (15) – Advanced decomposition (3)

CONCLUSIONS • The heart was structurally normal in about 30% of SCD cases • Most likely cause of arrhythmia in structurally normal hearts are genetic syndromes, especially channelopathies • Early onset atherosclerosis second most frequent COD • Effective family screening is an important adjunct to the autopsy